chr13:42101357:A>G Detail (hg38) (DGKH)

Information

Genome

Assembly Position
hg19 chr13:42,675,493-42,675,493 View the variant detail on this assembly version.
hg38 chr13:42,101,357-42,101,357

HGVS

Type Transcript Protein
RefSeq NM_152910.5:c.193-26106A>G
NM_178009.4:c.193-26106A>G
NM_001204504.2:c.193-26106A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.505
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 604071 OMIM
HGNC 2854 HGNC
Ensembl ENSG00000102780 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48433360 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Mood Disorders Four of the most consistently replicated variants associated with mood disorder ... BeFree 24944871 Detail
Annotation

Annotations

DescrptionSourceLinks
Four of the most consistently replicated variants associated with mood disorder occur in genes impor... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1170191 dbSNP
Genome
hg38
Position
chr13:42,101,357-42,101,357
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1170191
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5046
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8457
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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